Linked Data
dbSNP Id:
rs778322969
ExAC:
2:157182413 T / G
gnomAD v2:
2-157182413-T-G
gnomAD v3:
2-156325901-T-G
gnomAD v4:
2-156325901-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156325901T>G , CM000664.2:g.156325901T>G | GRCh38 |
| NC_000002.11:g.157182413T>G , CM000664.1:g.157182413T>G | GRCh37 |
| NC_000002.10:g.156890659T>G | NCBI36 |
| NG_011821.1:g.11875A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700228.1:c.1436A>C | ENSP00000514865.1:p.Asn479Thr | |
| ENST00000700229.1:c.604A>C | ||
| ENST00000700230.1:c.1180A>C | ENSP00000514867.1:n.1180A>C | |
| ENST00000700231.1:c.1565A>C | ENSP00000514868.1:p.Asn522Thr | |
| ENST00000339562.9:c.1640A>C MANE Select | ENSP00000344479.4:p.Asn547Thr | |
| ENST00000675870.1:c.*151A>C | ENSP00000502739.1:n.*151A>C | |
| ENST00000339562.8:c.1640A>C | ENSP00000344479.4:p.Asn547Thr | |
| ENST00000409108.6:c.1536A>C | ENSP00000386993.2:p.Glu512Asp | |
| ENST00000409572.5:c.1640A>C | ENSP00000386747.1:p.Asn547Thr | |
| ENST00000417764.5:c.*151A>C | ENSP00000415632.1:n.*151A>C | |
| ENST00000417972.5:c.*151A>C | ENSP00000394671.1:n.*151A>C | |
| ENST00000426264.5:c.1451A>C | ENSP00000389986.1:p.Asn484Thr | |
| ENST00000429376.5:c.1347A>C | ENSP00000410952.1:p.Glu449Asp | |
| NM_006186.3:c.1640A>C | NP_006177.1:p.Asn547Thr | |
| XM_005246621.2:c.1673A>C | XP_005246678.1:p.Asn558Thr | |
| XM_005246622.2:c.1451A>C | XP_005246679.1:p.Asn484Thr | |
| XM_005246623.1:c.1451A>C | XP_005246680.1:p.Asn484Thr | |
| XM_006712553.2:c.1598A>C | XP_006712616.1:p.Asn533Thr | |
| XM_011511246.1:c.1569A>C | XP_011509548.1:p.Glu523Asp | |
| NM_173173.2:c.1451A>C | NP_775265.1:p.Asn484Thr | |
| XM_005246621.4:c.1673A>C | XP_005246678.1:p.Asn558Thr | |
| XM_006712553.4:c.1598A>C | XP_006712616.1:p.Asn533Thr | |
| XM_011511246.2:c.1569A>C | XP_011509548.1:p.Glu523Asp | |
| XM_017004219.2:c.1640A>C | XP_016859708.1:p.Asn547Thr | |
| XM_017004220.2:c.1565A>C | XP_016859709.1:p.Asn522Thr | |
| XR_001738751.2:n.1887A>C | ||
| XR_001738752.2:n.1709A>C | ||
| XR_427087.4:n.1766A>C | ||
| NM_006186.4:c.1640A>C MANE Select | NP_006177.1:p.Asn547Thr | |
| NM_173173.3:c.1451A>C | NP_775265.1:p.Asn484Thr |